VHL H125P (c.374A>C)

CI-VAR-00001893Explore in graph →NP_000542.1:p.His125ProNM_000551.3:c.374A>CClinVar 223201 CIViC 2060 rs869025643

Curated evidence

Evidence by cancer (6 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–6 of 6 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Von Hippel-Lindau Disease6unmapped disease
VHL H125P (c.374A>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID5557 4 patients presenting with pheochromocytoma were reported. Upon genetic testing, 1 patient was found to have the above germline mutation. Family screening showed the absence of the mutation in the asy… (full text at CIViC) PMID 21461997 · Vicha et al., 2011 · Open in CIViC	civic
VHL H125P (c.374A>C)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5808 Genetic analysis of 21 patients with known germline mutations in an inherited pheochromocytoma/paraganglioma gene, ten of which were in the VHL gene. This mutation was found in a patient with pheochro… (full text at CIViC) PMID 25883647 · Luchetti et al., 2015 · Open in CIViC

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
223201	Likely pathogenic	criteria provided, single submitter	1	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome	germline	2	May 01, 2024	clinvar